Publications by authors named "Berenice Hebrard"
Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR or acquired wild-type ATTR form. Genetic testing is critical for determining a hereditary predisposition and subsequently initiating appropriate family screening.
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- * Out of 207 fetuses, 41% were diagnosed with the NF1 variant, leading to 135 pregnancies carried to term, including 16 affected children, while 69 pregnancies were terminated due to NF1.
- * Our findings highlight the complexities of PND, especially in cases of mosaic NF1, where indirect testing can lead to unexpected results, emphasizing the need for careful medical and genetic counseling.